Mutagenetix > Incidental Mutation

Incidental Mutation 'R1420:Gtpbp4'

160070

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp4

Ensembl Gene

ENSMUSG00000021149

Gene Name

GTP binding protein 4

Synonyms

Crfg, 2610028C09Rik, Nog1

MMRRC Submission

039476-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R1420 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9016367-9046119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 9023298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 589 (A589T)

Ref Sequence

ENSEMBL: ENSMUSP00000152412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021574] [ENSMUST00000222098]

AlphaFold

Q99ME9

Predicted Effect

probably benign
Transcript: ENSMUST00000021574

SMART Domains

Protein: ENSMUSP00000021574
Gene: ENSMUSG00000021149

Domain	Start	End	E-Value	Type
Pfam:FeoB_N	169	335	4.7e-13	PFAM
Pfam:MMR_HSR1	170	290	1.7e-18	PFAM
Pfam:NOG1	235	292	1.3e-29	PFAM
Pfam:NOGCT	395	446	1.4e-24	PFAM
low complexity region	448	459	N/A	INTRINSIC
low complexity region	467	479	N/A	INTRINSIC
low complexity region	489	503	N/A	INTRINSIC
low complexity region	544	558	N/A	INTRINSIC
low complexity region	560	575	N/A	INTRINSIC
low complexity region	583	600	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000222098
AA Change: A589T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222975

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.6%
20x: 90.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GTP-binding proteins are GTPases and function as molecular switches that can flip between two states: active, when GTP is bound, and inactive, when GDP is bound. 'Active' in this context usually means that the molecule acts as a signal to trigger other events in the cell. When an extracellular ligand binds to a G-protein-linked receptor, the receptor changes its conformation and switches on the trimeric G proteins that associate with it by causing them to eject their GDP and replace it with GTP. The switch is turned off when the G protein hydrolyzes its own bound GTP, converting it back to GDP. But before that occurs, the active protein has an opportunity to diffuse away from the receptor and deliver its message for a prolonged period to its downstream target. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	A	G	10: 83,331,799 (GRCm39)	Y669H	probably damaging	Het
Amotl2	A	T	9: 102,601,982 (GRCm39)	M409L	possibly damaging	Het
Ankrd35	A	G	3: 96,592,054 (GRCm39)	E780G	probably benign	Het
Brwd1	T	C	16: 95,837,234 (GRCm39)	Y866C	probably damaging	Het
Cul4b	G	C	X: 37,653,918 (GRCm39)		probably null	Het
Daw1	A	T	1: 83,137,548 (GRCm39)	Y10F	possibly damaging	Het
Dgki	A	T	6: 37,027,204 (GRCm39)		probably null	Het
Dnah3	A	T	7: 119,551,202 (GRCm39)	V3039E	probably damaging	Het
Ercc4	C	T	16: 12,948,073 (GRCm39)	T340I	probably benign	Het
Fam83b	T	C	9: 76,399,894 (GRCm39)	N403S	possibly damaging	Het
Fbh1	A	G	2: 11,772,493 (GRCm39)	F63L	probably benign	Het
Foxm1	G	A	6: 128,349,884 (GRCm39)	R395H	possibly damaging	Het
Ifna7	C	A	4: 88,734,906 (GRCm39)	H148N	probably damaging	Het
Il23r	T	C	6: 67,463,181 (GRCm39)	Y104C	probably damaging	Het
Il31ra	A	T	13: 112,668,286 (GRCm39)	W347R	probably damaging	Het
Ints7	T	G	1: 191,345,169 (GRCm39)	F620V	possibly damaging	Het
Iqcd	T	C	5: 120,738,860 (GRCm39)	L226P	probably damaging	Het
Jak3	G	T	8: 72,134,182 (GRCm39)	R428L	possibly damaging	Het
Kif28	C	A	1: 179,529,962 (GRCm39)	C733F	probably damaging	Het
Klkb1	C	A	8: 45,729,183 (GRCm39)	C347F	probably damaging	Het
Ksr2	A	G	5: 117,552,904 (GRCm39)	E4G	probably benign	Het
Lama1	T	C	17: 68,097,942 (GRCm39)	L1774P	probably damaging	Het
Lrriq3	A	G	3: 154,893,349 (GRCm39)	E350G	probably benign	Het
Nav3	G	A	10: 109,659,115 (GRCm39)	A834V	probably benign	Het
Ncoa6	G	A	2: 155,263,073 (GRCm39)	Q454*	probably null	Het
Nfatc2	C	A	2: 168,346,585 (GRCm39)	M836I	probably benign	Het
Nphp3	G	T	9: 103,913,092 (GRCm39)		probably null	Het
Olfml2b	C	T	1: 170,496,596 (GRCm39)	T409M	probably benign	Het
Oprk1	A	G	1: 5,672,544 (GRCm39)	K227R	probably damaging	Het
Or8g35	A	T	9: 39,381,289 (GRCm39)	H244Q	probably damaging	Het
Pate1	A	T	9: 35,596,505 (GRCm39)	W87R	probably damaging	Het
Pcnx4	T	C	12: 72,602,760 (GRCm39)	Y341H	probably benign	Het
Pde4c	T	A	8: 71,201,066 (GRCm39)	H421Q	probably damaging	Het
Pglyrp4	T	C	3: 90,636,021 (GRCm39)	V82A	probably damaging	Het
Pnmt	G	T	11: 98,278,502 (GRCm39)	R156L	probably benign	Het
Prdm9	C	A	17: 15,764,638 (GRCm39)	C714F	probably damaging	Het
Pwp1	T	C	10: 85,712,402 (GRCm39)	V80A	probably damaging	Het
Pxdn	T	C	12: 30,052,067 (GRCm39)	L568P	probably damaging	Het
Rasgrp4	C	A	7: 28,839,770 (GRCm39)	Q161K	probably damaging	Het
Rnf138	A	G	18: 21,159,159 (GRCm39)	E193G	probably damaging	Het
Slc16a6	A	G	11: 109,345,772 (GRCm39)	V413A	probably damaging	Het
Slc7a15	T	C	12: 8,584,442 (GRCm39)	T363A	probably benign	Het
Sufu	T	C	19: 46,385,623 (GRCm39)	S28P	probably benign	Het
Tex19.1	T	C	11: 121,037,872 (GRCm39)	S77P	probably damaging	Het
Tmc7	A	T	7: 118,165,440 (GRCm39)	Y91*	probably null	Het
Ttbk2	C	G	2: 120,576,393 (GRCm39)	R792S	probably benign	Het
Tyw1	T	C	5: 130,303,586 (GRCm39)		probably null	Het
U2surp	A	G	9: 95,344,856 (GRCm39)	S907P	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vps50	T	A	6: 3,588,007 (GRCm39)	L660*	probably null	Het
Wdr55	A	G	18: 36,893,392 (GRCm39)	E18G	probably benign	Het
Wipi1	A	G	11: 109,469,198 (GRCm39)	V331A	probably benign	Het

Other mutations in Gtpbp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Gtpbp4	APN	13	9,027,308 (GRCm39)	missense	probably benign
IGL01319:Gtpbp4	APN	13	9,035,296 (GRCm39)	missense	probably benign	0.05
IGL02108:Gtpbp4	APN	13	9,035,249 (GRCm39)	missense	probably benign	0.20
IGL02116:Gtpbp4	APN	13	9,042,772 (GRCm39)	missense	probably damaging	1.00
IGL02406:Gtpbp4	APN	13	9,041,786 (GRCm39)	missense	possibly damaging	0.81
Atretic	UTSW	13	9,040,773 (GRCm39)	nonsense	probably null
enervated	UTSW	13	9,039,141 (GRCm39)	missense	possibly damaging	0.93
PIT4576001:Gtpbp4	UTSW	13	9,041,763 (GRCm39)	missense	probably damaging	0.99
R0183:Gtpbp4	UTSW	13	9,024,997 (GRCm39)	missense	probably benign	0.05
R0571:Gtpbp4	UTSW	13	9,040,722 (GRCm39)	splice site	probably benign
R1641:Gtpbp4	UTSW	13	9,023,285 (GRCm39)	missense	probably benign	0.22
R1840:Gtpbp4	UTSW	13	9,029,500 (GRCm39)	missense	probably benign	0.00
R1967:Gtpbp4	UTSW	13	9,027,340 (GRCm39)	missense	probably benign	0.01
R2883:Gtpbp4	UTSW	13	9,040,759 (GRCm39)	missense	possibly damaging	0.86
R3862:Gtpbp4	UTSW	13	9,040,834 (GRCm39)	missense	probably damaging	0.99
R4524:Gtpbp4	UTSW	13	9,024,330 (GRCm39)	missense	probably benign	0.02
R4963:Gtpbp4	UTSW	13	9,035,253 (GRCm39)	missense	probably damaging	1.00
R5009:Gtpbp4	UTSW	13	9,039,102 (GRCm39)	missense	probably benign	0.05
R5555:Gtpbp4	UTSW	13	9,029,463 (GRCm39)	critical splice donor site	probably null
R5749:Gtpbp4	UTSW	13	9,045,983 (GRCm39)	critical splice donor site	probably null
R5860:Gtpbp4	UTSW	13	9,023,196 (GRCm39)	missense	probably benign	0.00
R6449:Gtpbp4	UTSW	13	9,040,773 (GRCm39)	nonsense	probably null
R6616:Gtpbp4	UTSW	13	9,039,141 (GRCm39)	missense	possibly damaging	0.93
R7261:Gtpbp4	UTSW	13	9,037,954 (GRCm39)	missense	probably benign	0.12
R7829:Gtpbp4	UTSW	13	9,035,366 (GRCm39)	splice site	probably null
R7999:Gtpbp4	UTSW	13	9,037,322 (GRCm39)	missense	probably damaging	1.00
R8698:Gtpbp4	UTSW	13	9,024,249 (GRCm39)	missense	probably benign	0.00
R9765:Gtpbp4	UTSW	13	9,024,994 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TGCCAGTTTCCAGCAAAGCAGC -3'
(R):5'- GAAAGCCTGGTCCAAGGTTTCCTC -3'

Sequencing Primer
(F):5'- TGGTCAACAGATGGTGATTCC -3'
(R):5'- CTGGTCCAAGGTTTCCTCAGATAG -3'

Posted On

2014-03-14